Development Level

Tbio 4 | 11,445

IMPC Phenotype

decreased circulating alkaline... 1 | 46
decreased fasted circulating g... 1 | 65
decreased total body fat amoun... 1 | 207

Disease

ovarian cancer 4 | 8,520
Autosomal recessive predisposition 3 | 1,442
Muscle hypotonia 3 | 571
lung cancer 3 | 4,740
psoriasis 3 | 6,694
Carcinoma 2 | 11,493
Cognitive delay 2 | 608
Congenital Epicanthus 2 | 177
Congenital anomaly of face 2 | 56
Distortion of face 2 | 46
Dysmorphic facies 2 | 46
Dystonia 2 | 164
Dystonic disease 2 | 106
Feeding difficulties 2 | 127
Funny looking face 2 | 46
Global developmental delay 2 | 608
Mental and motor retardation 2 | 608
Methylmalonic acidemia 2 | 37
facial deformity 2 | 46
interstitial cystitis 2 | 2,312
intraductal papillary-mucinous neoplasm (IPMN) 2 | 3,291
osteosarcoma 2 | 7,950
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
ulcerative colitis 2 | 1,819
3-Methylcrotonyl-CoA carboxylase deficiency 1 | 11
3-methylglutaconic aciduria 1 | 29
Abnormal urinary amino-acid findings 1 | 38
Aminoaciduria 1 | 38
Anemia 1 | 365
Bulbous nasal tip 1 | 48
Bulbous nose 1 | 48
Byzanthine arch palate 1 | 194
Cardiomyopathy, Dilated 1 | 83
Carnitine deficiency 1 | 6
Cerebellar Dysmetria 1 | 56
Concave bridge of nose 1 | 195
Degenerative polyarthritis 1 | 115
Delayed myelination 1 | 22
Depressed nasal bridge 1 | 195
Depressed nasal root/bridge 1 | 195
Developmental regression 1 | 95
Disease Progression 1 | 136
Downward slant of palpebral fissure 1 | 158
Epilepsy 1 | 792
Frontal bossing 1 | 157
Hemoglobin low 1 | 124
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Hypoplasia of corpus callosum 1 | 90
Infantile onset 1 | 238
Inverted V-shaped upper lip 1 | 19
Isobutyryl-CoA dehydrogenase deficiency 1 | 1
Isovaleric acidemia 1 | 15
Leigh disease 1 | 100
Lipid metabolism disorder 1 | 114
Long philtrum 1 | 137
Loss of developmental milestones 1 | 95
Maple syrup urine disease 1 | 24
Mental deterioration in childhood 1 | 95
Metabolic acidosis 1 | 90
Multiple acyl-CoA dehydrogenase deficiency 1 | 25
Myocardial Ischemia 1 | 169
Myoclonus 1 | 74
Neurodevelopmental regression 1 | 95
Osteoarthritis 1 | 184
Phenotypic variability 1 | 150
Pick disease 1 | 1,894
Potato nose 1 | 48
Propionic acidemia 1 | 16
Psychomotor regression 1 | 95
Psychomotor regression beginning in infancy 1 | 95
Psychomotor regression in infants 1 | 95
Psychomotor regression, progressive 1 | 95
Pyruvate decarboxylase deficiency 1 | 16
Seizures 1 | 596
Short nose 1 | 132
Small nose 1 | 132
Stomach Neoplasms 1 | 300
Strabismus 1 | 270
Succinic semialdehyde dehydrogenase deficiency 1 | 16
Tented mouth 1 | 19
Tented upper lip 1 | 19
Tetralogy of Fallot 1 | 63
Waldenstrons macroglobulinemia 1 | 765
acute myeloid leukemia 1 | 783
adrenocortical carcinoma 1 | 1,428
adult high grade glioma 1 | 3,801
beta-ketothiolase deficiency 1 | 13
colon cancer 1 | 1,478
cystic fibrosis 1 | 1,696
ductal carcinoma in situ 1 | 1,745
gastric carcinoma 1 | 807
invasive ductal carcinoma 1 | 2,951
lung adenocarcinoma 1 | 2,716
lung carcinoma 1 | 2,843
nephrosclerosis 1 | 333
pancreatic cancer 1 | 2,398
pancreatic carcinoma 1 | 562
primitive neuroectodermal tumor 1 | 3,035

Tissue

Blood and immune system 4 | 16,909
Cardiovascular System 4 | 15,192
Digestive Tract 4 | 17,369
Endocrine System 4 | 18,159
Female tissues 4 | 17,400
Liver and Pancreas 4 | 16,750
Male tissues 4 | 17,142
Nervous System 4 | 16,725
Respiratory system 4 | 16,393
Skin and soft tissues 4 | 17,230
Urinary Tract 4 | 16,678

Target Family

Enzyme 4 | 4,145

GO Process

valine catabolic process 4 | 4
transcription, DNA-templated 1,742 | 1,742
regulation of transcription, D... 1,135 | 1,135
G-protein coupled receptor sig... 1,053 | 1,053
signal transduction 1,005 | 1,005
positive regulation of transcr... 932 | 932
negative regulation of transcr... 683 | 683
positive regulation of transcr... 529 | 529
apoptotic process 511 | 511
cell differentiation 511 | 511
negative regulation of transcr... 492 | 492
neutrophil degranulation 484 | 484
negative regulation of apoptot... 479 | 479
positive regulation of cell pr... 470 | 470
innate immune response 469 | 469
multicellular organism develop... 460 | 460
cell adhesion 458 | 458
immune response 426 | 426
viral process 405 | 405
negative regulation of cell pr... 398 | 398
spermatogenesis 389 | 389
intracellular signal transduct... 376 | 376
inflammatory response 373 | 373
cell proliferation 366 | 366
post-translational protein mod... 356 | 356
protein transport 348 | 348
protein ubiquitination 347 | 347
cell division 345 | 345
regulation of transcription fr... 345 | 345
protein phosphorylation 334 | 334
nervous system development 321 | 321
positive regulation of apoptot... 320 | 320
response to drug 303 | 303
cell-cell signaling 300 | 300
positive regulation of gene ex... 297 | 297
transcription from RNA polymer... 286 | 286
protein deubiquitination 271 | 271
cell cycle 268 | 268
regulation of immune response 259 | 259
transport 255 | 255
regulation of apoptotic proces... 250 | 250
MAPK cascade 242 | 242
cell surface receptor signalin... 239 | 239
mRNA splicing, via spliceosome 236 | 236
protein polyubiquitination 222 | 222
angiogenesis 220 | 220
chemical synaptic transmission 219 | 219
cellular response to DNA damag... 217 | 217
proteolysis 217 | 217
proteasome-mediated ubiquitin-... 210 | 210
adaptive immune response 209 | 209
intracellular protein transpor... 209 | 209
DNA repair 206 | 206
leukocyte migration 206 | 206
protein homooligomerization 206 | 206
rRNA processing 204 | 204
extracellular matrix organizat... 198 | 198
visual perception 198 | 198
positive regulation of ERK1 an... 194 | 194
cellular protein metabolic pro... 192 | 192
brain development 188 | 188
axon guidance 186 | 186
Fc-epsilon receptor signaling ... 182 | 182
keratinization 182 | 182
cell migration 181 | 181
defense response to virus 181 | 181
positive regulation of cell mi... 179 | 179
regulation of cell proliferati... 177 | 177
in utero embryonic development 176 | 176
Wnt signaling pathway 175 | 175
cilium assembly 175 | 175
blood coagulation 170 | 170
RNA splicing 169 | 169
translation 169 | 169
mRNA processing 168 | 168
protein autophosphorylation 168 | 168
aging 167 | 167
response to hypoxia 166 | 166
T cell receptor signaling path... 164 | 164
heart development 164 | 164
negative regulation of canonic... 164 | 164
positive regulation of I-kappa... 164 | 164
ubiquitin-dependent protein ca... 164 | 164
ER to Golgi vesicle-mediated t... 162 | 162
protein stabilization 160 | 160
response to lipopolysaccharide 160 | 160
transcription initiation from ... 160 | 160
defense response to bacterium 159 | 159
protein folding 159 | 159
sensory perception of smell 157 | 157
homophilic cell adhesion via p... 156 | 156
transmembrane transport 154 | 154
negative regulation of gene ex... 151 | 151
interferon-gamma-mediated sign... 150 | 150
receptor-mediated endocytosis 150 | 150
ion transmembrane transport 148 | 148
peptidyl-serine phosphorylatio... 148 | 148
positive regulation of protein... 148 | 148
antigen processing and present... 143 | 143
DNA replication 142 | 142
cell cycle arrest 142 | 142

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